Gene: STX7

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: syntaxin 7

Type of Gene: protein-coding

rs864309676 in STX7 gene and Infantile Spasm PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs864309676 in STX7 gene and Malformations of Cortical Development, Group II PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs864309676 in STX7 gene and Microcephaly (physical finding) PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs864309676 in STX7 gene and Neuronal heterotopia PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs864309676 in STX7 gene and Pachygyria PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs864309676 in STX7 gene and Poor school performance PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs3813356 in STX7 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3813356 in STX7 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs147324647 in STX7 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs864309676 in STX7 gene and Seizures PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs11154680 in STX7 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.